Skeletal abnormalities caused by a Connexin43R239Q mutation in a mouse model for autosomal recessive craniometaphyseal dysplasia by Yasuyuki Fujii, Iichiro Okabe, Ayano Hatori, Shyam Kishor Sah, Jitendra Kanaujiya, Melanie Fisher, Rachael Norris, Mark Terasaki, Ernst J. Reichenberger, I-Ping Chen

“…Abstract Craniometaphyseal dysplasia (CMD), a rare craniotubular disorder, occurs in an autosomal dominant (AD) or autosomal recessive (AR) form. CMD is characterized by hyperostosis of craniofacial bones and metaphyseal flaring of long bones. …”
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Intermediate Osteopetrosis with Hooked-Shaped Phalanges by Sangeeta Malik, Abhilash Panwar, Nagaraju Kamarthi, Sumit Goel

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Global Gene Expression Profiling in PPAR-γ Agonist-Treated Kidneys in an Orthologous Rat Model of Human Autosomal Recessive Polycystic Kidney Disease by Daisuke Yoshihara, Masanori Kugita, Tamio Yamaguchi, Harold M. Aukema, Hiroki Kurahashi, Miwa Morita, Yoshiyuki Hiki, James P. Calvet, Darren P. Wallace, Takafumi Toyohara, Takaaki Abe, Shizuko Nagao

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Compound Heterozygous Mutations in TMC1 and MYO15A Are Associated with Autosomal Recessive Nonsyndromic Hearing Loss in Two Chinese Han Families by Pengcheng Xu, Jun Xu, Hu Peng, Tao Yang

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Novel Homozygous TTI2 Variant Causing Autosomal Recessive Syndromic Intellectual Disability and Primary Microcephaly from Pakistan: A Case Report (Exome Report) by Zul Qarnain, Fatima Khan, Fizza Akbar, Salman Kirmani

“…Next generation sequencing revealed autosomal recessive TTI2 variant with uncertain significance, denoted as c.21_22insAAGCGCTCTG (p.Glu8Lysfs × 12). …”
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In Vitro Characterization of Motor Neurons and Purkinje Cells Differentiated from Induced Pluripotent Stem Cells Generated from Patients with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay by Aurélie Louit, Marie-Josée Beaudet, Mathieu Blais, François Gros-Louis, Nicolas Dupré, François Berthod

“…Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset neurodegenerative disease mainly characterized by spasticity in the lower limbs and poor muscle control. …”
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Comparison of Predictive In Silico Tools on Missense Variants in GJB2, GJB6, and GJB3 Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A) by Vera G. Pshennikova, Nikolay A. Barashkov, Georgii P. Romanov, Fedor M. Teryutin, Aisen V. Solov’ev, Nyurgun N. Gotovtsev, Alena A. Nikanorova, Sergey S. Nakhodkin, Nikolay N. Sazonov, Igor V. Morozov, Alexander A. Bondar, Lilya U. Dzhemileva, Elza K. Khusnutdinova, Olga L. Posukh, Sardana A. Fedorova

“…The accuracy of in silico pathogenicity prediction tools has not been previously assessed for variants associated with autosomal recessive deafness 1A (DFNB1A). Here, we identify in silico tools with the most accurate clinical significance predictions for missense variants of the GJB2 (Cx26), GJB6 (Cx30), and GJB3 (Cx31) connexin genes associated with DFNB1A. …”
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Novel ABCA12 Missense Variant in a Patient with Congenital Ichthyosis and Palmoplantar Keratoderma by Pauline Bernard, Nuria Pell, Juliette Mazereeuw-Hautier, Nathalie Jonca

Subjects: “…autosomal recessive congenital ichthyosis…”
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Clinical follow-up of 2 families with glomerulopathy caused by COQ8B gene variants and literature review by Lei Zhang, Gentzon Hall, Peitong Han, Chunzhen Li, Jieyuan Cui

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The Genetics of Parkinson’s Disease by Levent Şimşek, Emine Berrin Yüksel, Zeliha Yücel

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Protein C Deficiency Caused by a Novel Mutation in the PROC Gene in an Infant with Delayed Onset Purpura Fulminans by Mariam S. Al Harbi, Ayman W. El-Hattab

“…Therefore, early recognition is critical in preventing morbidity and mortality associated with autosomal recessive PCD.…”
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GJB6-D13S1830 and GJB6-D13S1854 Deletions in Patients with non-Syndromic Prelingual Deafness by Mercedes Arceo Álvarez, Estela Morales Peralta, Yuledmi Perdomo Chacón, Teresa Collazo Mesa

“…<strong>Foundation:</strong> GJB6-D13S1830 and GJB6-D13S1854 deletions are pathogenic variants of the GJB6 gene, which has been shown to be the second cause of autosomal recessive non-syndromic deafness in Spain, where some of our ancestors come from. …”
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De Novo Mutation of the ADAMTS13 Gene with Mesenteric Ischemia in an Infant with Congenital Thrombotic Thrombocytopenic Purpura by Ibrahim Alharbi, Sarah Alqarni, Wed Khayyat, Amirah Almatrafi

“…Conclusion. cTTP is a rare life-threatening autosomal recessive disease with a high mortality rate. …”
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Clinical, genetic aspects and molecular pathogenesis of osteopetrosis by D. D. Nadyrshina, R. I. Khusainova

“…The disease can be autosomal recessive, autosomal dominant, X-linked or sporadic. …”
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Alpha II Antiplasmin Deficiency Complicating Pregnancy: A Case Report by Brenda Dawley

“…It is inherited in an autosomal recessive fashion. Case. 30-year-old Gravida 1, Para 0, presented for prenatal care with her first and subsequently her second pregnancy. …”
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Whole exome sequencing enables the correct diagnosis of Frank–Ter Haar syndrome in a Saudi family by Y. N. Khan, M. Imad A.M. Mahmud, N. Othman, H. M. Radzuan, S. Basit

“…Frank–Ter Haar syndrome (FTHS) is a rare genetic hereditary autosomal recessive disorder characterized by defective malformation of cardiovascular, craniofacial, and skeletal system. …”
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Coexistence of Factor VII Deficiency and Hereditary Spastic Paraplegia in Two Siblings by Hortensia De la Corte-Rodriguez, E. Carlos Rodriguez-Merchan, M. Teresa Alvarez-Roman, Ana L. Hernandez-Moreno

“…We present the case of two patients aged 12 years and 7 years who were referred to our hospital for factor VII deficiency inherited in an autosomal recessive pattern, who had suffered from previous multiple joint haemarthroses. …”
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Screening of West Siberian patients with primary congenital glaucoma for CYP1B1 gene mutations by D. E. Ivanoshchuk, S. V. Mikhailova, O. G. Fenkova, E. V. Shakhtshneider, A. Z. Fursova, I. V. Bychkov, M. I. Voevoda

“…Most cases of PСG are sporadic, but familial cases with an autosomal recessive (predominantly) and autosomal dominant (rare) type of inheritance have been described. …”
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Methyl-Arginine Profile of Brain from Aged PINK1-KO+A53T-SNCA Mice Suggests Altered Mitochondrial Biogenesis by Georg Auburger, Suzana Gispert, Nadine Brehm

“…Hereditary Parkinson’s disease can be triggered by an autosomal dominant overdose of alpha-Synuclein (SNCA) or the autosomal recessive deficiency of PINK1. We recently showed that the combination of PINK1-knockout with overexpression of A53T-SNCA in double mutant (DM) mice potentiates phenotypes and reduces survival. …”
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Molecular basis and genetics of hypohidrotic ectodermal dysplasias by V. A. Kovalskaia, T. Cherevatova, A. V. Polyakov, O. P. Ryzhkova

“…The ectodysplasin A (EDA) gene is the cause of the most common X-linked form of ED, a gene from the Wnt family (WNT10A) is responsible for the autosomal recessive form of the disease, and two other genes (EDAR and EDARADD) can cause both autosomal recessive and autosomal dominant forms. …”
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